Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01691:Msh6'

104120

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Msh6

Ensembl Gene

ENSMUSG00000005370

Gene Name

mutS homolog 6

Synonyms

Gtmbp, GTBP, Msh6

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01691

Quality Score

Status

Chromosome

Chromosomal Location

88282490-88298320 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 88292907 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 554 (V554A)

Ref Sequence

ENSEMBL: ENSMUSP00000005503 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000005503]

AlphaFold

P54276

Predicted Effect

probably benign
Transcript: ENSMUST00000005503
AA Change: V554A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000005503
Gene: ENSMUSG00000005370
AA Change: V554A

Domain	Start	End	E-Value	Type
low complexity region	23	46	N/A	INTRINSIC
low complexity region	76	87	N/A	INTRINSIC
PWWP	90	152	9.01e-30	SMART
low complexity region	198	212	N/A	INTRINSIC
low complexity region	216	230	N/A	INTRINSIC
low complexity region	239	264	N/A	INTRINSIC
low complexity region	273	291	N/A	INTRINSIC
low complexity region	373	389	N/A	INTRINSIC
Pfam:MutS_I	406	525	4.7e-35	PFAM
Pfam:MutS_II	536	700	1.4e-10	PFAM
MUTSd	750	1100	4.56e-86	SMART
MUTSac	1125	1319	1.68e-116	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the DNA mismatch repair MutS family. In E. coli, the MutS protein helps in the recognition of mismatched nucleotides prior to their repair. A highly conserved region of approximately 150 aa, called the Walker-A adenine nucleotide binding motif, exists in MutS homologs. The encoded protein heterodimerizes with MSH2 to form a mismatch recognition complex that functions as a bidirectional molecular switch that exchanges ADP and ATP as DNA mismatches are bound and dissociated. Mutations in this gene may be associated with hereditary nonpolyposis colon cancer, colorectal cancer, and endometrial cancer. Transcripts variants encoding different isoforms have been described. [provided by RefSeq, Jul 2013]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit premature death and are predisposed to tumor formation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl6a	T	A	3: 32,774,349 (GRCm39)	M282K	possibly damaging	Het
Adam22	T	C	5: 8,142,742 (GRCm39)	N831S	probably damaging	Het
Adamdec1	C	T	14: 68,810,556 (GRCm39)	R200Q	probably damaging	Het
Asb15	A	G	6: 24,567,271 (GRCm39)	I531V	probably benign	Het
Btrc	T	A	19: 45,501,117 (GRCm39)	D223E	probably benign	Het
Ccdc30	T	A	4: 119,250,761 (GRCm39)	E161V	probably damaging	Het
Cd38	G	A	5: 44,060,928 (GRCm39)		probably benign	Het
Clec2d	T	C	6: 129,161,185 (GRCm39)	F94S	probably damaging	Het
Cwf19l1	C	T	19: 44,109,311 (GRCm39)		probably null	Het
Dnah2	A	T	11: 69,430,269 (GRCm39)	N96K	probably benign	Het
Ephb6	G	A	6: 41,591,449 (GRCm39)	R202H	probably benign	Het
Gm43191	T	A	3: 116,471,616 (GRCm39)	I218L	probably benign	Het
Gm7168	G	A	17: 14,169,140 (GRCm39)	S169N	probably damaging	Het
Gm7964	T	C	7: 83,405,344 (GRCm39)		noncoding transcript	Het
Kif20b	T	C	19: 34,913,143 (GRCm39)		probably benign	Het
Kmt2e	A	G	5: 23,702,089 (GRCm39)	T906A	probably benign	Het
Mboat2	A	G	12: 25,004,221 (GRCm39)	N341D	probably damaging	Het
Ndc80	T	C	17: 71,815,634 (GRCm39)	T384A	possibly damaging	Het
Or1af1	G	T	2: 37,110,038 (GRCm39)	C179F	probably damaging	Het
Or8g18	G	A	9: 39,149,315 (GRCm39)	T135I	probably benign	Het
Ptpn5	G	T	7: 46,732,906 (GRCm39)	H312Q	probably benign	Het
Rftn2	C	T	1: 55,253,445 (GRCm39)	V53I	probably damaging	Het
Rgs20	T	C	1: 4,987,145 (GRCm39)	T124A	probably benign	Het
Sox18	T	C	2: 181,313,143 (GRCm39)	S58G	possibly damaging	Het
Togaram2	A	G	17: 72,036,485 (GRCm39)	M1012V	probably null	Het
Usp48	A	T	4: 137,350,583 (GRCm39)		probably null	Het

Other mutations in Msh6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01834:Msh6	APN	17	88,293,140 (GRCm39)	missense	probably damaging	1.00
IGL01904:Msh6	APN	17	88,292,160 (GRCm39)	missense	probably benign
IGL01957:Msh6	APN	17	88,292,519 (GRCm39)	missense	possibly damaging	0.73
IGL02117:Msh6	APN	17	88,298,234 (GRCm39)	unclassified	probably benign
IGL02234:Msh6	APN	17	88,294,229 (GRCm39)	missense	probably damaging	1.00
IGL02512:Msh6	APN	17	88,292,160 (GRCm39)	missense	probably benign
IGL02651:Msh6	APN	17	88,296,943 (GRCm39)	missense	probably damaging	1.00
IGL03381:Msh6	APN	17	88,292,537 (GRCm39)	missense	probably damaging	1.00
medea	UTSW	17	88,287,651 (GRCm39)	nonsense	probably null
medusa	UTSW	17	88,295,891 (GRCm39)	unclassified	probably benign
PIT4449001:Msh6	UTSW	17	88,293,616 (GRCm39)	missense	probably damaging	0.96
R0196:Msh6	UTSW	17	88,287,788 (GRCm39)	missense	possibly damaging	0.95
R0324:Msh6	UTSW	17	88,294,048 (GRCm39)	nonsense	probably null
R0492:Msh6	UTSW	17	88,282,679 (GRCm39)	missense	probably benign
R0711:Msh6	UTSW	17	88,294,112 (GRCm39)	missense	probably damaging	1.00
R1065:Msh6	UTSW	17	88,295,891 (GRCm39)	unclassified	probably benign
R1454:Msh6	UTSW	17	88,292,186 (GRCm39)	missense	probably benign	0.00
R1740:Msh6	UTSW	17	88,293,150 (GRCm39)	missense	possibly damaging	0.72
R1770:Msh6	UTSW	17	88,287,651 (GRCm39)	nonsense	probably null
R1771:Msh6	UTSW	17	88,291,950 (GRCm39)	missense	probably benign	0.17
R1919:Msh6	UTSW	17	88,292,553 (GRCm39)	missense	probably benign	0.01
R1926:Msh6	UTSW	17	88,293,653 (GRCm39)	missense	probably benign
R2026:Msh6	UTSW	17	88,297,771 (GRCm39)	missense	probably damaging	1.00
R2095:Msh6	UTSW	17	88,295,661 (GRCm39)	missense	possibly damaging	0.93
R2097:Msh6	UTSW	17	88,292,844 (GRCm39)	missense	probably benign	0.00
R2149:Msh6	UTSW	17	88,293,516 (GRCm39)	missense	probably damaging	1.00
R2156:Msh6	UTSW	17	88,293,568 (GRCm39)	nonsense	probably null
R2167:Msh6	UTSW	17	88,296,911 (GRCm39)	missense	probably damaging	1.00
R2382:Msh6	UTSW	17	88,292,159 (GRCm39)	missense	probably benign
R3005:Msh6	UTSW	17	88,295,713 (GRCm39)	missense	probably benign	0.34
R3160:Msh6	UTSW	17	88,292,909 (GRCm39)	missense	probably damaging	1.00
R3162:Msh6	UTSW	17	88,292,909 (GRCm39)	missense	probably damaging	1.00
R3162:Msh6	UTSW	17	88,292,909 (GRCm39)	missense	probably damaging	1.00
R3774:Msh6	UTSW	17	88,293,609 (GRCm39)	missense	probably damaging	1.00
R3775:Msh6	UTSW	17	88,293,609 (GRCm39)	missense	probably damaging	1.00
R4350:Msh6	UTSW	17	88,292,012 (GRCm39)	missense	probably damaging	1.00
R4424:Msh6	UTSW	17	88,298,217 (GRCm39)	nonsense	probably null
R4499:Msh6	UTSW	17	88,287,697 (GRCm39)	missense	probably damaging	1.00
R4667:Msh6	UTSW	17	88,292,234 (GRCm39)	missense	possibly damaging	0.89
R4668:Msh6	UTSW	17	88,292,234 (GRCm39)	missense	possibly damaging	0.89
R4669:Msh6	UTSW	17	88,292,234 (GRCm39)	missense	possibly damaging	0.89
R4849:Msh6	UTSW	17	88,290,947 (GRCm39)	missense	possibly damaging	0.94
R5137:Msh6	UTSW	17	88,287,716 (GRCm39)	missense	possibly damaging	0.83
R5472:Msh6	UTSW	17	88,291,989 (GRCm39)	missense	possibly damaging	0.81
R5594:Msh6	UTSW	17	88,293,497 (GRCm39)	missense	probably benign	0.00
R5607:Msh6	UTSW	17	88,294,329 (GRCm39)	missense	probably damaging	1.00
R5608:Msh6	UTSW	17	88,294,329 (GRCm39)	missense	probably damaging	1.00
R5660:Msh6	UTSW	17	88,292,147 (GRCm39)	missense	possibly damaging	0.94
R6243:Msh6	UTSW	17	88,290,999 (GRCm39)	missense	possibly damaging	0.69
R6279:Msh6	UTSW	17	88,287,677 (GRCm39)	missense	probably damaging	1.00
R6357:Msh6	UTSW	17	88,291,888 (GRCm39)	nonsense	probably null
R6399:Msh6	UTSW	17	88,294,319 (GRCm39)	missense	probably damaging	1.00
R6453:Msh6	UTSW	17	88,293,167 (GRCm39)	missense	probably damaging	1.00
R6646:Msh6	UTSW	17	88,293,870 (GRCm39)	missense	possibly damaging	0.80
R7404:Msh6	UTSW	17	88,282,548 (GRCm39)
R7837:Msh6	UTSW	17	88,292,094 (GRCm39)	missense	probably damaging	1.00
R8004:Msh6	UTSW	17	88,294,215 (GRCm39)	missense	probably damaging	1.00
R8296:Msh6	UTSW	17	88,294,340 (GRCm39)	missense	probably damaging	1.00
R8326:Msh6	UTSW	17	88,294,340 (GRCm39)	missense	probably damaging	1.00
R8377:Msh6	UTSW	17	88,292,598 (GRCm39)	missense	probably damaging	1.00
R8715:Msh6	UTSW	17	88,293,195 (GRCm39)	missense	probably benign
R9752:Msh6	UTSW	17	88,293,963 (GRCm39)	missense	probably damaging	1.00
X0026:Msh6	UTSW	17	88,298,042 (GRCm39)	missense	probably benign	0.00
X0026:Msh6	UTSW	17	88,293,609 (GRCm39)	missense	probably damaging	1.00

Posted On

2014-01-21